C_161288075_10

SNP ID:

rs143507713

Gene

NLRP14 RBMXL2

Gene Name

NLR family pyrin domain containing 14

RNA binding motif protein, X-linked like 2

Set Membership:

-

Chromosome Location:

Chr.11: 7089955 - 7089955 on Build GRCh38

Polymorphism:

A/C, Transversion substitution

Context Sequence [VIC/FAM]:

CGGGGATCATCTGAGCAGAGGCTCC[A/C]ATCGAGAGCCCTTTGAGAGCTACGG

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 609665 MIM: 605444
Literature Links:	NLRP14 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

NLRP14 - NLR family pyrin domain containing 14
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_176822.3	1022	Intron			NP_789792.1
XM_011520044.1	1022	Intron			XP_011518346.1

RBMXL2 - RNA binding motif protein, X-linked like 2
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_014469.4	1022	Missense Mutation	AAT,CAT	N,H 279	NP_055284.3

More Information

Gene Ontology Categories:

Process(es)

multicellular organism development
spermatogenesis
cell differentiation

Function(s)

ATP binding
nucleotide binding
RNA binding